16 Matching Annotations
  1. Dec 2022
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
    1
    1. DrewSturgill 10 Dec 2022
      Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment

      PMID: 12597058

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance:Autosomal Recessive

      General: Insufficient evidenceGene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12597058/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical and clinical characteristics of creatine deficiency syndromes
    1
    1. DrewSturgill 10 Dec 2022
      Biochemical and clinical characteristics of creatine deficiency syndromes

      PMID: 15625559

      Gene:GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/15625559/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
    1
    1. DrewSturgill 10 Dec 2022
      Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

      PMID: 12709373

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12709373/
  5. www.sciencedirect.com www.sciencedirect.com
    l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
    2
    1. DrewSturgill 10 Dec 2022
      OMIM 612718

      Case#: pt I, 21 y/o male

      DiseaseAssertion: GAMT deficiency

      FamilyInfo:non-consangeous parents of Yemenite Jewish descent

      CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: abnormal CK and EMG results

      Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

      GAMT activity assay: N/A

      Zygosity: autosomal recessive

      Variant 1: OMIM 612718

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    2. DrewSturgill 10 Dec 2022
      l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

      PMID: 20682460 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    sciencedirect.com/science/article/abs/pii/S1096719210002568
  6. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    3
    1. DrewSturgill 10 Dec 2022
      OMIM 300352)

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    2. DrewSturgill 10 Dec 2022
      OMIM 601240

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    3. DrewSturgill 10 Dec 2022
      OMIM 602360

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
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    academic.oup.com/hmg/article/22/1/110/616255
  7. Nov 2022
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
    1. DrewSturgill 01 Nov 2022
      Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

      PMID: 12889668<br /> Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: No evidence as far as I can see due to no open access Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12889668/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice
    1
    1. DrewSturgill 01 Nov 2022
      Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice

      PMID: 32172372 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: No evidence Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/32172372/
  10. www.sciencedirect.com www.sciencedirect.com
    LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
    1
    1. DrewSturgill 01 Nov 2022
      LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step

      PMID: 30858092 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      Gene:GAMT General: No evidence HGNC:4136
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    sciencedirect.com/science/article/pii/S0009898119301123
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
    1
    1. DrewSturgill 01 Nov 2022
      Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency

      PMID: 28971744 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      Gene:GAMT General: No evidence as far as I can see due to no open access HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/28971744/
  12. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    1
    1. DrewSturgill 01 Nov 2022
      l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

      PMID: 23026748 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: Insufficient evidence Gene:GAMT HGNC:4136
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    academic.oup.com/hmg/article/22/1/110/616255
  13. Oct 2022
  14. bmcpregnancychildbirth.biomedcentral.com bmcpregnancychildbirth.biomedcentral.com
    Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
    1
    1. DrewSturgill 11 Oct 2022
      Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

      PMID: 32883247 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03192-4
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Guanidinoacetic acid deficiency: a new entity in clinical medicine?
    2
    1. DrewSturgill 11 Oct 2022
      Guanidinoacetic acid

      No variants identified

    2. DrewSturgill 11 Oct 2022
      Guanidinoacetic acid deficiency: a new entity in clinical medicine?

      PMID: 33029096 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    ncbi.nlm.nih.gov/pmc/articles/PMC7532483/